TCAP

TCAP
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1YA5, 2F8V
Dynodwyr
Cyfenwau	TCAP, CMD1N, LGMD2G, T-cap, TELE, telethonin, CMH25, titin-cap, LGMDR7
Dynodwyr allanol	OMIM: 604488 HomoloGene: 2724 GeneCards: TCAP
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • protein-macromolecule adaptor activity • transmembrane transporter binding • titin Z domain binding • titin binding • BMP binding • GO:0001948, GO:0016582 protein binding • FATZ binding • structural constituent of muscle Cydrannau o'r gell • cytoplasm • cytosol • I band • sarcomere • Z disc Prosesau biolegol • somitogenesis • response to muscle stretch • sarcomerogenesis • cardiac muscle contraction • adult heart development • otic vesicle formation • skeletal muscle contraction • cardiac muscle hypertrophy • cardiac muscle tissue morphogenesis • skeletal muscle thin filament assembly • detection of muscle stretch • cardiac myofibril assembly • cardiac muscle hypertrophy in response to stress • detection of mechanical stimulus • muscle filament sliding • sarcomere organization • skeletal muscle myosin thick filament assembly • GO:0034622 protein-containing complex assembly Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	8557	n/a
Ensembl	ENSG00000173991	n/a
UniProt	O15273	n/a
RefSeq (mRNA)	NM_003673	n/a
RefSeq (protein)	NP_003664 NP_003664.1	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn TCAP yw TCAP a elwir hefyd yn Titin-cap (Telethonin) a Titin-cap (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 17, band 17q12.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn TCAP.

• TELE
• CMD1N
• CMH25
• T-cap
• LGMD2G
• telethonin

Llyfryddiaeth

• "Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism. ". Mol Genet Metab. 2006. PMID 16490376.
• "Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. ". Mol Genet Metab. 2006. PMID 16352453.
• "Expression and purification of a difficult sarcomeric protein: Telethonin. ". Protein Expr Purif. 2017. PMID 28811266.
• "Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. ". PLoS One. 2014. PMID 25055047.
• "Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population.". Mol Genet Metab. 2006. PMID 16650785.